Anderson-Fabry Disease Fitness Improvement Training (A-FAD-FIT)

September 16, 2026 updated by: Jan Vávra, General University Hospital, Prague

Anderson-Fabry Disease Fitness Improvement Training: A-FAD-FIT

This study will evaluate physical function, cardiorespiratory fitness, muscle strength, and quality of life in patients with Fabry disease and assess the effects of a 12-week physiotherapy-led exercise programme. Participants will be non-randomly assigned to an exercise intervention group or a control group receiving no study-specific exercise intervention. The intervention group will be assessed at baseline, immediately after the 12-week intervention, and 12 months after baseline. The control group will be assessed at baseline and 12 months after baseline.

Study Overview

Status

Status

Indicates the current recruitment status or the expanded access status.
Recruiting

Conditions

Conditions

The disease, disorder, syndrome, illness, or injury that is being studied. On ClinicalTrials.gov, conditions may also include other health-related issues, such as lifespan, quality of life, and health risks.

Intervention / Treatment

Intervention / Treatment

A process or action that is the focus of a clinical study. Interventions include drugs, medical devices, procedures, vaccines, and other products that are either investigational or already available. Interventions can also include noninvasive approaches, such as education or modifying diet and exercise.

Detailed Description

Fabry disease is a rare X-linked lysosomal storage disorder associated with multisystem involvement, reduced exercise tolerance, fatigue, pain, and impaired quality of life. Evidence regarding structured physiotherapy and exercise interventions in this population remains limited.

The aim of this study is to evaluate functional and cardiorespiratory capacity in patients with Fabry disease and to investigate the effects of a 12-week physiotherapy-led exercise programme. Participants will be non-randomly assigned to either an exercise intervention group or a control group receiving no study-specific exercise intervention. Group assignment will primarily reflect participants' willingness to participate in the exercise programme and logistical feasibility, particularly the ability to attend regular supervised exercise sessions.

Participants in the intervention group will complete a 12-week physiotherapy-led programme consisting of one supervised exercise session per week and two home-based exercise sessions per week. Supervised sessions include a brief aerobic warm-up followed by strengthening exercises using body weight and resistance bands. The programme also includes a progressive increase in daily ambulatory physical activity, monitored primarily by daily step count. Participants in the intervention group will be assessed at baseline, immediately after the 12-week intervention, and 12 months after baseline.

Participants in the control group will receive no study-specific exercise intervention and will be assessed at baseline and 12 months after baseline. The study will evaluate short-term changes following the exercise intervention as well as longer-term changes in the main study outcomes.

Study Type

Study Type

Describes the nature of a clinical study. Study types include interventional studies (also called clinical trials), observational studies (including patient registries), and expanded access.
Interventional

Enrollment (Estimated)

Enrollment

The number of participants in a clinical study. The "anticipated" enrollment is the target number of participants that the researchers need for the study.
50

Phase

Phase

The stage of a clinical trial studying a drug or biological product, based on definitions developed by the U.S. Food and Drug Administration (FDA). The phase is based on the study's objective, the number of participants, and other characteristics. There are five phases: Early Phase 1 (formerly listed as Phase 0), Phase 1, Phase 2, Phase 3, and Phase 4. Not Applicable is used to describe trials without FDA-defined phases, including trials of devices or behavioral interventions.
  • Not Applicable

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Contact

The name and contact information for the person who can answer enrollment questions for a clinical study. Each location where the study is being conducted may also have a specific contact, who may be better able to answer those questions.

Study Locations

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Eligibility Criteria

The key requirements that people who want to participate in a clinical study must meet or the characteristics they must have. Eligibility criteria consist of both inclusion criteria (which are required for a person to participate in the study) and exclusion criteria (which prevent a person from participating). Types of eligibility criteria include whether a study accepts healthy volunteers, has age or age group requirements, or is limited by sex.

Ages Eligible for Study

18 years and older (Adult, Older Adult)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Description

Inclusion Criteria:

  • Confirmed diagnosis of Fabry disease
  • Age 18 years or older
  • Followed at a participating clinical center
  • Able to understand the study procedures and provide informed consent
  • Clinically stable and medically suitable for exercise testing and participation in the exercise programme

Exclusion Criteria:

  • Acute deterioration in health status at the time of enrollment
  • Medical contraindication to exercise testing or exercise training
  • Severe comorbidity preventing safe participation in the study procedures
  • Inability to comply with study procedures or complete follow-up assessments

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Primary Purpose: Treatment
  • Allocation: Non-Randomized
  • Interventional Model: Parallel Assignment
  • Masking: None (Open Label)

Arms and Interventions

Participant Group / Arm

Participant Group / Arm

A group or subgroup of participants in a clinical trial that receives a specific intervention/treatment, or no intervention, according to the trial's protocol.
Intervention / Treatment

Intervention / Treatment

A process or action that is the focus of a clinical study. Interventions include drugs, medical devices, procedures, vaccines, and other products that are either investigational or already available. Interventions can also include noninvasive approaches, such as education or modifying diet and exercise.
Experimental: Exercise Intervention Group

Participants will complete a 12-week physiotherapy-led exercise programme consisting of one supervised exercise session per week and two home-based exercise sessions per week, together with a progressive increase in daily step count. Supervised sessions include a brief aerobic warm-up followed by strengthening exercises using body weight and resistance bands. Participants will be assessed at baseline, immediately after the 12-week intervention, and 12 months after baseline.
Behavioral: Physiotherapy exercise programe

A 12-week physiotherapy-led exercise programme consisting of one supervised session and two home-based exercise sessions per week. Supervised sessions include a brief aerobic warm-up followed by strengthening exercises using body weight and resistance bands. The programme also includes a progressive increase in daily ambulatory physical activity, monitored primarily by daily step count. Adherence is monitored using exercise diaries and regular follow-up during supervised sessions.
No Intervention: Control Group

Participants will receive no study-specific exercise intervention. They will be assessed at baseline and 12 months after baseline.

What is the study measuring?

Primary Outcome Measures

Primary Outcome Measures

In a clinical study's protocol, the planned outcome measure that is the most important for evaluating the effect of an intervention/treatment. Most clinical studies have one primary outcome measure, but some have more than one.
Outcome Measure
Measure Description
Time Frame
Change from baseline in peak oxygen uptake (VO2peak) after 12 weeks
Time Frame: Baseline and 12 weeks after baseline

Change from baseline in peak oxygen uptake (VO2peak), expressed in mL/kg/min, assessed during cardiopulmonary exercise testing (CPET) in the exercise intervention group following the 12-week exercise programme.
Baseline and 12 weeks after baseline

Secondary Outcome Measures

Secondary Outcome Measures

In a clinical study's protocol, a planned outcome measure that is not as important as the primary outcome measure for evaluating the effect of an intervention but is still of interest. Most clinical studies have more than one secondary outcome measure.
Outcome Measure
Measure Description
Time Frame
Change from baseline in peak oxygen uptake (VO2peak) at 12 months
Time Frame: Baseline and 12 months after baseline

Change from baseline in peak oxygen uptake (VO2peak), expressed in mL/kg/min, assessed during cardiopulmonary exercise testing (CPET). VO2peak will be assessed at baseline and 12 months after baseline in both the exercise intervention and control groups. The change over 12 months will be compared between groups.
Baseline and 12 months after baseline
Change in handgrip strength
Time Frame: Baseline, 12 weeks after baseline, and 12 months after baseline

Change in handgrip strength, expressed in kilograms, assessed using handgrip dynamometry. Participants will be assessed in a seated position with the arm close to the body and the elbow flexed at approximately 90 degrees. Three maximal trials will be performed for each hand. The highest value from each hand will be retained, and the mean of the highest right- and left-hand values will be used as the handgrip strength outcome. In the intervention group, handgrip strength will be assessed at baseline, immediately after the 12-week exercise intervention, and 12 months after baseline. In the control group, handgrip strength will be assessed at baseline and 12 months after baseline.
Baseline, 12 weeks after baseline, and 12 months after baseline
Change in 6-minute walk distance
Time Frame: Baseline, 12 weeks after baseline, and 12 months after baseline

Change in distance walked during the 6-minute walk test, expressed in meters. In the intervention group, the 6-minute walk distance will be assessed at baseline, immediately after the 12-week exercise intervention, and 12 months after baseline. In the control group, the 6-minute walk distance will be assessed at baseline and 12 months after baseline.
Baseline, 12 weeks after baseline, and 12 months after baseline
Change in 30-second chair stand test performance
Time Frame: Baseline, 12 weeks after baseline, and 12 months after baseline

Change in the number of completed stands during the 30-second chair stand test. In the intervention group, performance will be assessed at baseline, immediately after the 12-week exercise intervention, and 12 months after baseline. In the control group, performance will be assessed at baseline and 12 months after baseline.
Baseline, 12 weeks after baseline, and 12 months after baseline
Change in forced expiratory volume in 1 second (FEV1)
Time Frame: Baseline, 12 weeks after baseline, and 12 months after baseline

Change in forced expiratory volume in 1 second (FEV1), expressed in liters, assessed by pulmonary function testing. In the intervention group, FEV1 will be assessed at baseline, immediately after the 12-week exercise intervention, and 12 months after baseline. In the control group, FEV1 will be assessed at baseline and 12 months after baseline.
Baseline, 12 weeks after baseline, and 12 months after baseline
Change in vital capacity (VC)
Time Frame: Baseline, 12 weeks after baseline, and 12 months after baseline

Change in vital capacity (VC), expressed in liters, assessed by pulmonary function testing. In the intervention group, VC will be assessed at baseline, immediately after the 12-week exercise intervention, and 12 months after baseline. In the control group, VC will be assessed at baseline and 12 months after baseline.
Baseline, 12 weeks after baseline, and 12 months after baseline
Change in diffusing capacity of the lungs for carbon monoxide (DLCO)
Time Frame: Baseline, 12 weeks after baseline, and 12 months after baseline

Change in diffusing capacity of the lungs for carbon monoxide (DLCO), expressed in mmol/min/kPa, assessed by pulmonary function testing. In the intervention group, DLCO will be assessed at baseline, immediately after the 12-week exercise intervention, and 12 months after baseline. In the control group, DLCO will be assessed at baseline and 12 months after baseline.
Baseline, 12 weeks after baseline, and 12 months after baseline
Change in Hospital Anxiety and Depression Scale - Anxiety subscale score
Time Frame: Baseline, 12 weeks after baseline, and 12 months after baseline

Change in anxiety symptoms assessed using the Anxiety subscale of the Hospital Anxiety and Depression Scale (HADS). The subscale consists of 7 items scored from 0 to 3, resulting in a total score ranging from 0 to 21. Higher scores indicate greater severity of anxiety symptoms. In the intervention group, the score will be assessed at baseline, immediately after the 12-week exercise intervention, and 12 months after baseline. In the control group, the score will be assessed at baseline and 12 months after baseline.
Baseline, 12 weeks after baseline, and 12 months after baseline
Change in Hospital Anxiety and Depression Scale - Depression subscale score
Time Frame: Baseline, 12 weeks after baseline, and 12 months after baseline

Change in depressive symptoms assessed using the Depression subscale of the Hospital Anxiety and Depression Scale (HADS). The subscale consists of 7 items scored from 0 to 3, resulting in a total score ranging from 0 to 21. Higher scores indicate greater severity of depressive symptoms. In the intervention group, the score will be assessed at baseline, immediately after the 12-week exercise intervention, and 12 months after baseline. In the control group, the score will be assessed at baseline and 12 months after baseline.
Baseline, 12 weeks after baseline, and 12 months after baseline
Change in SF-36 Physical Functioning domain score
Time Frame: Baseline, 12 weeks after baseline, and 12 months after baseline

Change in physical functioning assessed using the Physical Functioning domain of the 36-Item Short Form Health Survey (SF-36). The domain consists of 10 items and is scored from 0 to 100, with higher scores indicating better physical functioning. In the intervention group, the score will be assessed at baseline, immediately after the 12-week exercise intervention, and 12 months after baseline. In the control group, the score will be assessed at baseline and 12 months after baseline.
Baseline, 12 weeks after baseline, and 12 months after baseline
Change in SF-36 Role Physical domain score
Time Frame: Baseline, 12 weeks after baseline, and 12 months after baseline

Change in limitations in usual role activities due to physical health problems assessed using the Role Physical domain of the 36-Item Short Form Health Survey (SF-36). The domain consists of 4 items and is scored from 0 to 100, with higher scores indicating fewer limitations due to physical health problems. In the intervention group, the score will be assessed at baseline, immediately after the 12-week exercise intervention, and 12 months after baseline. In the control group, the score will be assessed at baseline and 12 months after baseline.
Baseline, 12 weeks after baseline, and 12 months after baseline
Change in SF-36 Bodily Pain domain score
Time Frame: Baseline, 12 weeks after baseline, and 12 months after baseline

Change in bodily pain assessed using the Bodily Pain domain of the 36-Item Short Form Health Survey (SF-36). The domain consists of 2 items and is scored from 0 to 100, with higher scores indicating less pain and less interference of pain with usual activities. In the intervention group, the score will be assessed at baseline, immediately after the 12-week exercise intervention, and 12 months after baseline. In the control group, the score will be assessed at baseline and 12 months after baseline.
Baseline, 12 weeks after baseline, and 12 months after baseline
Change in SF-36 General Health domain score
Time Frame: Baseline, 12 weeks after baseline, and 12 months after baseline

Change in general health perceptions assessed using the General Health domain of the 36-Item Short Form Health Survey (SF-36). The domain consists of 5 items and is scored from 0 to 100, with higher scores indicating better perceived general health. In the intervention group, the score will be assessed at baseline, immediately after the 12-week exercise intervention, and 12 months after baseline. In the control group, the score will be assessed at baseline and 12 months after baseline.
Baseline, 12 weeks after baseline, and 12 months after baseline
Change in SF-36 Vitality domain score
Time Frame: Baseline, 12 weeks after baseline, and 12 months after baseline

Change in vitality assessed using the Vitality domain of the 36-Item Short Form Health Survey (SF-36). The domain consists of 4 items and is scored from 0 to 100, with higher scores indicating greater vitality and lower levels of fatigue. In the intervention group, the score will be assessed at baseline, immediately after the 12-week exercise intervention, and 12 months after baseline. In the control group, the score will be assessed at baseline and 12 months after baseline.
Baseline, 12 weeks after baseline, and 12 months after baseline
Change in SF-36 Social Functioning domain score
Time Frame: Baseline, 12 weeks after baseline, and 12 months after baseline

Change in social functioning assessed using the Social Functioning domain of the 36-Item Short Form Health Survey (SF-36). The domain consists of 2 items and is scored from 0 to 100, with higher scores indicating better social functioning and less interference of health problems with social activities. In the intervention group, the score will be assessed at baseline, immediately after the 12-week exercise intervention, and 12 months after baseline. In the control group, the score will be assessed at baseline and 12 months after baseline.
Baseline, 12 weeks after baseline, and 12 months after baseline
Change in SF-36 Role Emotional domain score
Time Frame: Baseline, 12 weeks after baseline, and 12 months after baseline

Change in limitations in usual role activities due to emotional problems assessed using the Role Emotional domain of the 36-Item Short Form Health Survey (SF-36). The domain consists of 3 items and is scored from 0 to 100, with higher scores indicating fewer role limitations due to emotional problems. In the intervention group, the score will be assessed at baseline, immediately after the 12-week exercise intervention, and 12 months after baseline. In the control group, the score will be assessed at baseline and 12 months after baseline.
Baseline, 12 weeks after baseline, and 12 months after baseline
Change in SF-36 Mental Health domain score
Time Frame: Baseline, 12 weeks after baseline, and 12 months after baseline

Change in mental health assessed using the Mental Health domain of the 36-Item Short Form Health Survey (SF-36). The domain consists of 5 items and is scored from 0 to 100, with higher scores indicating better mental health and psychological well-being. In the intervention group, the score will be assessed at baseline, immediately after the 12-week exercise intervention, and 12 months after baseline. In the control group, the score will be assessed at baseline and 12 months after baseline.
Baseline, 12 weeks after baseline, and 12 months after baseline
Change in EQ-5D-5L health state index value
Time Frame: Baseline, 12 weeks after baseline, and 12 months after baseline

Change in health-related quality of life assessed using the EQ-5D-5L descriptive system. The instrument assesses five dimensions: mobility, self-care, usual activities, pain/discomfort, and anxiety/depression, each rated across five levels of severity. Responses will be converted to an EQ-5D-5L health state index value using an appropriate validated value set. Higher index values indicate better health-related quality of life. In the intervention group, the index value will be assessed at baseline, immediately after the 12-week exercise intervention, and 12 months after baseline. In the control group, the index value will be assessed at baseline and 12 months after baseline.
Baseline, 12 weeks after baseline, and 12 months after baseline
Change in EQ-5D-5L Visual Analogue Scale score
Time Frame: Baseline, 12 weeks after baseline, and 12 months after baseline

Change in self-rated health assessed using the EQ-5D-5L Visual Analogue Scale (EQ VAS). The scale ranges from 0 to 100, where 0 represents the worst health the participant can imagine and 100 represents the best health the participant can imagine. Higher scores indicate better self-rated health. In the intervention group, the score will be assessed at baseline, immediately after the 12-week exercise intervention, and 12 months after baseline. In the control group, the score will be assessed at baseline and 12 months after baseline.
Baseline, 12 weeks after baseline, and 12 months after baseline
Change in skeletal muscle mass
Time Frame: Baseline, 12 weeks after baseline, and 12 months after baseline

Change in skeletal muscle mass, expressed in kilograms, assessed by bioelectrical impedance analysis using the InBody970 device. In the intervention group, skeletal muscle mass will be assessed at baseline, immediately after the 12-week exercise intervention, and 12 months after baseline. In the control group, skeletal muscle mass will be assessed at baseline and 12 months after baseline.
Baseline, 12 weeks after baseline, and 12 months after baseline
Change in body fat mass
Time Frame: Baseline, 12 weeks after baseline, and 12 months after baseline

Change in body fat mass, expressed in kilograms, assessed by bioelectrical impedance analysis using the InBody970 device. In the intervention group, body fat mass will be assessed at baseline, immediately after the 12-week exercise intervention, and 12 months after baseline. In the control group, body fat mass will be assessed at baseline and 12 months after baseline.
Baseline, 12 weeks after baseline, and 12 months after baseline
Change in whole-body phase angle
Time Frame: Baseline, 12 weeks after baseline, and 12 months after baseline

Change in whole-body phase angle, expressed in degrees, assessed at 50 kHz by bioelectrical impedance analysis using the InBody970 device. In the intervention group, whole-body phase angle will be assessed at baseline, immediately after the 12-week exercise intervention, and 12 months after baseline. In the control group, whole-body phase angle will be assessed at baseline and 12 months after baseline.
Baseline, 12 weeks after baseline, and 12 months after baseline

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Sponsor

The organization or person who initiates the study and who has authority and control over the study.
General University Hospital, Prague

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

Study Start

The actual date on which the first participant was enrolled in a clinical study. The "anticipated" study start date is the date that the researchers think will be the study start date.
October 6, 2025

Primary Completion (Estimated)

Primary Completion

The date on which the last participant in a clinical study was examined or received an intervention to collect final data for the primary outcome measure. Whether the clinical study ended according to the protocol or was terminated does not affect this date. For clinical studies with more than one primary outcome measure with different completion dates, this term refers to the date on which data collection is completed for all the primary outcome measures. The "anticipated" primary completion date is the date that the researchers think will be the primary completion date for the study.
March 31, 2028

Study Completion (Estimated)

Study Completion

The date on which the last participant in a clinical study was examined or received an intervention/treatment to collect final data for the primary outcome measures, secondary outcome measures, and adverse events (that is, the last participant's last visit). The "anticipated" study completion date is the date that the researchers think will be the study completion date.
December 31, 2028

Study Registration Dates

First Submitted

First Submitted

The date on which the study sponsor or investigator first submitted a study record to ClinicalTrials.gov. There is typically a delay of a few days between the first submitted date and the record's availability on ClinicalTrials.gov (the first posted date).
March 21, 2026

First Submitted That Met QC Criteria

First Submitted That Met QC Criteria

The date on which the study sponsor or investigator first submits a study record that is consistent with National Library of Medicine (NLM) quality control (QC) review criteria. The sponsor or investigator may need to revise and submit a study record one or more times before NLM's QC review criteria are met. It is the responsibility of the sponsor or investigator to ensure that the study record is consistent with the NLM QC review criteria.
March 21, 2026

First Posted (Actual)

First Posted

The date on which the study record was first available on ClinicalTrials.gov after National Library of Medicine (NLM) quality control (QC) review has concluded. There is typically a delay of a few days between the date the study sponsor or investigator submitted the study record and the first posted date.
March 27, 2026

Study Record Updates

Last Update Posted (Actual)

Last Update Posted

The most recent date on which changes to a study record were made available on ClinicalTrials.gov. There may be a delay between when the changes were submitted to ClinicalTrials.gov by the study's sponsor or investigator (the last update submitted date) and the last update posted date.
September 21, 2026

Last Update Submitted That Met QC Criteria

Last Update Submitted That Met QC Criteria

The most recent date on which the study sponsor or investigator submitted changes to a study record that are consistent with National Library of Medicine (NLM) quality control (QC) review criteria. It is the responsibility of the sponsor or investigator to ensure that the study record is consistent with the NLM QC review criteria.
September 16, 2026

Last Verified

Last Verified

The most recent date on which the study sponsor or investigator confirmed the information about a clinical study on ClinicalTrials.gov as accurate and current. If a study with a recruitment status of recruiting; not yet recruiting; or active, not recruiting has not been confirmed within the past 2 years, the study's recruitment status is shown as unknown.
September 1, 2026

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

Other Study ID Numbers

Identifiers or ID numbers other than the NCT number that are assigned to a clinical study by the study's sponsor, funders, or others. These numbers may include unique identifiers from other trial registries and National Institutes of Health grant numbers.
  • A-FAD-FIT

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

NO

IPD Plan Description

There is currently no plan to share individual participant data. Any future data sharing would require separate consideration in accordance with applicable ethics, participant consent, and data protection requirements.

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

Cookie Settings

We use cookies to ensure that we give you the best experience on our website. For more details carefully read our Privacy and Cookies Policy. ...>>>You can change your preferences or withdraw your consent at any time by deleting the cookies from your website or computer as described in the policy. Please accept it and choose your preferences by ticking the corresponding boxes in the "Manage Settings" section below. Please carefully read our Terms of Service before you proceed with using any part of this website.
«Manage Settings